Canonical Allele Identifier: CA341275544
Gene: ABCA4 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94047052C>G , CM000663.2:g.94047052C>G GRCh38
NC_000001.10:g.94512608C>G , CM000663.1:g.94512608C>G GRCh37
NC_000001.9:g.94285196C>G NCBI36
NG_009073.1:g.79098G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.2785G>C MANE Select ENSP00000359245.3:p.Val929Leu
ENST00000649773.1:c.2563G>C ENSP00000496882.1:p.Val855Leu
ENST00000370225.3:c.2785G>C ENSP00000359245.3:p.Val929Leu
ENST00000536513.5:c.-64-6963G>C ENSP00000439707.2:n.-64-6963G>C
NM_000350.2:c.2785G>C NP_000341.2:p.Val929Leu
NM_000350.3:c.2785G>C MANE Select NP_000341.2:p.Val929Leu